Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
VPS13B	157680	broad.mit.edu	37	8	100832176	100832176	+	Silent	SNP	C	C	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr8:100832176C>T	uc003yiv.3	+	48	9006	c.8895C>T	c.(8893-8895)agC>agT	p.S2965S	VPS13B_uc003yiw.3_Silent_p.S2940S	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2965					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGTGGGATAGCCCAATGCGAG	0.393000													19	48					0	0	1	0	0
OR2D3	120775	broad.mit.edu	37	11	6942667	6942667	+	Silent	SNP	C	C	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr11:6942667C>T	uc010rav.2	+	0	435	c.435C>T	c.(433-435)ccC>ccT	p.P145P		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 3 (OR2D3), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCTGCAAGCCCCTGTACTACT	0.512000													17	80					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118506950	118506950	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr5:118506950T>G	uc010jcl.1	+	23	6645	c.6464T>G	c.(6463-6465)aTt>aGt	p.I2155S	DMXL1_uc003ksd.2_Missense_Mutation_p.I2155S|DMXL1_uc021ycw.1_Missense_Mutation_p.I1982S	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	2155										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ATGGAATTGATTTTGCTTTTG	0.353000													4	33					0	0	1	0	0
DNAJC17	55192	broad.mit.edu	37	15	41071505	41071505	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr15:41071505C>A	uc001zms.2	-	3	243	c.211G>T	c.(211-213)Gca>Tca	p.A71S	DNAJC17_uc010bbz.2_Non-coding_Transcript|DNAJC17_uc010bca.2_Non-coding_Transcript|DNAJC17_uc010bcb.2_Non-coding_Transcript	NM_018163	NP_060633	Q9NVM6	DJC17_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 17 (DNAJC17), mRNA.	71	J.				protein folding		RNA binding|heat shock protein binding|nucleotide binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		TTGTCATATGCAGCCTGGCAG	0.542000													7	60					0	0	1	0	0
HIST1H2AH	85235	broad.mit.edu	37	6	27114964	27114964	+	Silent	SNP	T	T	G			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr6:27114964T>G	uc003niz.3	+	0	57	c.57T>G	c.(55-57)tcT>tcG	p.S19S	HIST1H2BK_uc003nix.2_5'Flank|Histone3_uc021yox.1_5'Flank|HIST1H2BK_uc021yoy.1_5'Flank|MIR3143_uc021yoz.1_5'Flank	NM_080596	NP_542163	Q96KK5	H2A1H_HUMAN	Homo sapiens histone cluster 1, H2ah (HIST1H2AH), mRNA.	19					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						AGACCCGCTCTTCTCGGGCTG	0.622000													8	70					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140181292	140181292	+	Silent	SNP	C	C	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr5:140181292C>T	uc003lhf.2	+	0	510	c.510C>T	c.(508-510)taC>taT	p.Y170Y	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.Y170Y	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	185	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTGACTTACAGTCTTGATT	0.393000													6	68					0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23418878	23418878	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr1:23418878C>A	uc001bgk.2	-	3	2427	c.1877G>T	c.(1876-1878)gGg>gTg	p.G626V	LUZP1_uc010odv.1_Missense_Mutation_p.G626V|LUZP1_uc001bgl.3_Missense_Mutation_p.G626V|LUZP1_uc001bgm.1_Missense_Mutation_p.G626V	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	Homo sapiens leucine zipper protein 1 (LUZP1), transcript variant 1, mRNA.	626						nucleus		p.E625Q(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTGATTAACCCCTTCTTTATG	0.473000													4	149					0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143623678	143623678	+	Silent	SNP	G	G	A			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr8:143623678G>A	uc003ywm.3	+	26	4266	c.4083G>A	c.(4081-4083)gaG>gaA	p.E1361E		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	1361					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					AGCCCAAGGAGGAGCCCAAGT	0.697000													4	30					0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107722934	107722934	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr8:107722934T>C	uc011lht.2	+	8	1811	c.1712T>C	c.(1711-1713)tTt>tCt	p.F571S	OXR1_uc022azp.1_Missense_Mutation_p.F570S|OXR1_uc003ymf.3_Missense_Mutation_p.F570S|OXR1_uc011lhu.2_Missense_Mutation_p.F563S|OXR1_uc010mcg.3_Intron|OXR1_uc010mch.3_Missense_Mutation_p.F268S	NM_001198532	NP_001185461	Q8N573	OXR1_HUMAN	Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA.	571					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AGGAAAACGTTTGTATCTCAA	0.378000													5	40					0	0	1	0	0
CHRM5	1133	broad.mit.edu	37	15	34355791	34355791	+	Silent	SNP	C	C	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr15:34355791C>T	uc001zhk.1	+	2	1543	c.873C>T	c.(871-873)agC>agT	p.S291S	CHRM5_uc001zhl.1_Silent_p.S291S|CHRM5_uc021sir.1_Silent_p.S291S	NM_012125	NP_036257	P08912	ACM5_HUMAN	Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA.	291					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	CTGGCCCAAGCGCCAATTGGG	0.632000													6	65					0	0	1	0	0
KRTAP4-12	83755	broad.mit.edu	37	17	39280056	39280056	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr17:39280056G>C	uc002hwa.3	-	0	364	c.319C>G	c.(319-321)Cag>Gag	p.Q107E		NM_031854	NP_114060	Q9BQ66	KR412_HUMAN	Homo sapiens keratin associated protein 4-12 (KRTAP4-12), mRNA.	107	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].		Missing (in allele KAP4.12-v1).			keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGGTGGTCTGACAGCAGCTG	0.677000													9	71					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116599646	116599646	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr8:116599646T>C	uc003yny.3	-	4	2860	c.2282A>G	c.(2281-2283)aAt>aGt	p.N761S	TRPS1_uc011lhy.2_Missense_Mutation_p.N752S|TRPS1_uc003ynz.3_Missense_Mutation_p.N748S|TRPS1_uc010mcy.3_Missense_Mutation_p.N748S	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	748	Mediates interaction with GLI3.				NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGTTAGCAGATTGTAGACCCT	0.498000									Langer-Giedion syndrome				8	162					0	0	1	0	0
SIX5	147912	broad.mit.edu	37	19	46270388	46270388	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr19:46270388C>G	uc002pdb.3	-	1	1224	c.829G>C	c.(829-831)Gag>Cag	p.E277Q		NM_175875	NP_787071	Q8N196	SIX5_HUMAN	Homo sapiens SIX homeobox 5 (SIX5), mRNA.	277						cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	p.E277Q(2)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		GACTCGTCCTCAGTCGTGGGA	0.677000													5	8					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25469564	25469564	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr2:25469564G>A	uc002rgc.3	-	9	1461	c.1204C>T	c.(1204-1206)Cag>Tag	p.Q402*	DNMT3A_uc002rgd.3_Nonsense_Mutation_p.Q402*|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Nonsense_Mutation_p.Q213*	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.	402	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCTTGTTCTGCACCTCCACG	0.637000			"""Mis, F, N, S"""		AML								5	102					0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88704974	88704974	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr10:88704974G>T	uc001kea.3	-	3	579	c.452C>A	c.(451-453)cCt>cAt	p.P151H	MMRN2_uc010qmn.2_Intron|MMRN2_uc009xtb.2_Missense_Mutation_p.P108H	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	151						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TCCATCCTGAGGTTCCTGGTG	0.562000													4	34					0	0	1	0	0
TBL2	26608	broad.mit.edu	37	7	72985120	72985120	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr7:72985120A>C	uc003tyh.3	-	6	1195	c.1061T>G	c.(1060-1062)aTt>aGt	p.I354S	TBL2_uc011kex.2_Missense_Mutation_p.I318S|TBL2_uc010lbg.3_Missense_Mutation_p.I259S|TBL2_uc003tyi.3_Missense_Mutation_p.I189S|TBL2_uc011key.2_Missense_Mutation_p.I225S	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN	Homo sapiens transducin (beta)-like 2 (TBL2), mRNA.	354										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				GTAGAGATGAATACTACTGCC	0.622000													15	83					0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4832584	4832584	+	Splice_Site	SNP	C	C	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr1:4832584C>T	uc001alm.1	+	4	1544	c.1163_splice	c.e4+1	p.R388_splice	AJAP1_uc001aln.3_Splice_Site_p.R388_splice	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	388	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TAATGGAAACCGGTAAGCTCG	0.592000													4	26					0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6826286	6826286	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr4:6826286T>G	uc003gjr.4	+	2	569	c.106T>G	c.(106-108)Ttg>Gtg	p.L36V	KIAA0232_uc003gjq.4_Missense_Mutation_p.L36V	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	36							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GCTTCATGCTTTGGGTCCAGT	0.488000													4	101					0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101972253	101972253	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr15:101972253C>T	uc002bxa.2	-	3	766	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	PCSK6_uc010bpd.3_Missense_Mutation_p.R22Q|PCSK6_uc002bwy.3_Missense_Mutation_p.R151Q|PCSK6_uc010bpe.3_Missense_Mutation_p.R148Q|PCSK6_uc002bxb.2_Missense_Mutation_p.R151Q|PCSK6_uc002bxc.1_Missense_Mutation_p.R151Q|PCSK6_uc002bxd.1_Missense_Mutation_p.R151Q|PCSK6_uc002bxe.3_Missense_Mutation_p.R151Q|PCSK6_uc002bxg.1_Missense_Mutation_p.R151Q	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	152	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	p.R151Q(3)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGGGTCACTTCGCACCTGTCT	0.483000													3	14					0	0	1	0	0
POLR3D	661	broad.mit.edu	37	8	22107993	22107993	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr8:22107993C>T	uc003xbl.3	+	8	1242	c.1159C>T	c.(1159-1161)Cct>Tct	p.P387S	POLR3D_uc003xbm.3_Missense_Mutation_p.P387S|POLR3D_uc011kze.2_Non-coding_Transcript	NM_001722	NP_001713	P05423	RPC4_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide D, 44kDa (POLR3D), mRNA.	387					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		TGTATGTTCCCCTGATTTTGA	0.547000													5	83					0	0	1	0	0
FAN1	22909	broad.mit.edu	37	15	31202968	31202968	+	Silent	SNP	C	C	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr15:31202968C>T	uc001zff.3	+	3	1818	c.1527C>T	c.(1525-1527)gtC>gtT	p.V509V	FAN1_uc001zfc.3_Silent_p.V509V|FAN1_uc010azw.2_Silent_p.V509V|FAN1_uc001zfd.3_Silent_p.V509V|FAN1_uc001zfe.3_Silent_p.V114V	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	Homo sapiens FANCD2/FANCI-associated nuclease 1 (FAN1), transcript variant 1, mRNA.	509					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						AGCGTTCAGTCTGCACTTGGG	0.418000								Direct reversal of damage					9	32					0	0	1	0	0
HOMER1	9456	broad.mit.edu	37	5	78752789	78752789	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr5:78752789T>A	uc003kfy.3	-	1	1161	c.58A>T	c.(58-60)Aca>Tca	p.T20S	HOMER1_uc010jab.3_Missense_Mutation_p.T20S|HOMER1_uc010jac.3_Missense_Mutation_p.T20S|HOMER1_uc010jad.3_Intron	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN	Homo sapiens homer homolog 1 (Drosophila) (HOMER1), mRNA.	20	WH1.				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		TTCTTCTTTGTGTTTGGGTCA	0.423000													4	118					0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048624	6048624	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr11:6048624C>T	uc010qzw.2	-	0	348	c.311G>A	c.(310-312)tGc>tAc	p.C104Y		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 1 (OR56A1), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGAGGAAGCAGGCAGGGAA	0.552000													4	53					0	0	1	0	0
TMF1	7110	broad.mit.edu	37	3	69088082	69088082	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr3:69088082C>G	uc011bfx.2	-	6	2162	c.1915G>C	c.(1915-1917)Gag>Cag	p.E639Q	TMF1_uc003dnn.3_Missense_Mutation_p.E636Q	NM_007114	NP_009045	P82094	TMF1_HUMAN	Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.	636					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		AGATCTTTCTCTTGGCGTTCT	0.373000													4	40					0	0	1	0	0
CIDEA	1149	broad.mit.edu	37	18	12274153	12274153	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr18:12274153T>A	uc002kqu.4	+	3	950	c.494T>A	c.(493-495)tTc>tAc	p.F165Y	CIDEA_uc002kqt.4_Missense_Mutation_p.F131Y|CIDEA_uc010dlc.3_Non-coding_Transcript			O60543	CIDEA_HUMAN	Homo sapiens cell death-inducing DFFA-like effector a (CIDEA), transcript variant 2, non-coding RNA.	131					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						AGAGTCACCTTCGACTTGTAC	0.597000													11	65					0	0	1	0	0
HIST3H2A	92815	broad.mit.edu	37	1	228645400	228645400	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr1:228645400T>C	uc001hsy.3	-	0	161	c.119A>G	c.(118-120)tAt>tGt	p.Y40C	HIST3H2BB_uc001hsz.3_5'Flank	NM_033445	NP_254280	Q7L7L0	H2A3_HUMAN	Homo sapiens histone cluster 3, H2a (HIST3H2A), mRNA.	40					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|lung(3)|ovary(1)	5		Prostate(94;0.183)				GCGCTCCGAATAGTTGCCCTT	0.721000													3	20					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	102999693	102999693	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr11:102999693A>G	uc001phn.1	+	12	2056	c.1912A>G	c.(1912-1914)Atg>Gtg	p.M638V	DYNC2H1_uc009yxe.1_Missense_Mutation_p.M638V|DYNC2H1_uc001pho.2_Missense_Mutation_p.M638V	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	638	Stem (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCAGAGGCCAATGATGTTACA	0.259000													3	35					0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47172402	47172402	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr12:47172402C>T	uc001rpi.2	-	10	1274	c.875G>A	c.(874-876)cGc>cAc	p.R292H	SLC38A4_uc001rpj.2_Missense_Mutation_p.R292H	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	292					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	p.R292H(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TGCAGGATTGCGGTGGGTGTA	0.458000													7	72					0	0	1	0	0
CPSF6	11052	broad.mit.edu	37	12	69651614	69651614	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr12:69651614C>T	uc001suu.4	+	4	733	c.623C>T	c.(622-624)cCa>cTa	p.P208L	CPSF6_uc001sut.4_Missense_Mutation_p.P208L|CPSF6_uc010stk.2_5'Flank	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.	208	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			GGCCGTTTTCCAGGGGCTGTT	0.542000													14	101					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12956022	12956022	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr8:12956022A>G	uc003wwm.2	-	9	3497	c.3053T>C	c.(3052-3054)cTa>cCa	p.L1018P	DLC1_uc003wwk.1_Missense_Mutation_p.L581P|DLC1_uc003wwl.1_Missense_Mutation_p.L615P|DLC1_uc011kxx.1_Missense_Mutation_p.L507P	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	1018					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GTTAATCTGTAGTGATACAGA	0.502000													4	53					0	0	1	0	0
HAS1	3036	broad.mit.edu	37	19	52217155	52217155	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr19:52217155C>T	uc002pxn.1	-	3	1296	c.1283G>A	c.(1282-1284)cGt>cAt	p.R428H	HAS1_uc010epc.1_Missense_Mutation_p.R21H|HAS1_uc010epd.1_3'UTR|HAS1_uc002pxo.1_Missense_Mutation_p.R421H|HAS1_uc002pxp.1_Missense_Mutation_p.R420H	NM_001523	NP_001514	Q92839	HAS1_HUMAN	Homo sapiens hyaluronan synthase 1 (HAS1), mRNA.	421					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GTAGAACAGACGCAGCACAGT	0.701000													13	15					0	0	1	0	0
FASTKD3	79072	broad.mit.edu	37	5	7868025	7868025	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr5:7868025G>A	uc003jeb.3	-	1	344	c.172C>T	c.(172-174)Cat>Tat	p.H58Y	FASTKD3_uc011cmp.2_Intron|FASTKD3_uc003jec.3_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jed.3_5'Flank|MTRR_uc003jee.4_5'Flank|MTRR_uc003jef.4_5'Flank|MTRR_uc003jeg.4_5'Flank|MTRR_uc010ito.3_5'Flank	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	Homo sapiens FAST kinase domains 3 (FASTKD3), transcript variant 1, mRNA.	58					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGGGCATGATGGAATTTGACC	0.433000													12	51					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				28	46					0	0	1	0	0
UVSSA	57654	broad.mit.edu	37	4	1347109	1347109	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr4:1347109C>G	uc003gde.4	+	4	1289	c.842C>G	c.(841-843)tCa>tGa	p.S281*		NM_020894	NP_065945	Q2YD98	K1530_HUMAN	Homo sapiens KIAA1530 (KIAA1530), mRNA.	281																	GGTGACCCCTCAGATGAGGAC	0.662000													4	18					0	0	1	0	0
C20orf160	140706	broad.mit.edu	37	20	30602787	30602787	+	Silent	SNP	G	G	A			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr20:30602787G>A	uc002wxf.2	+	1	124	c.111G>A	c.(109-111)cgG>cgA	p.R37R		NM_080625	NP_542192	Q9NUG4	CT160_HUMAN	Homo sapiens chromosome 20 open reading frame 160 (C20orf160), mRNA.	37										central_nervous_system(3)|endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	23						TGAGCCGCCGGCCCCTGCACT	0.632000													5	80					0	0	1	0	0